RPE65

Summary

Gene Symbol: RPE65
Description: retinal pigment epithelium-specific protein 65kDa
Alias: BCO3, LCA2, RP20, mRPE65, rd12, sRPE65, BCO family, member 3, RBP-binding membrane protein, all-trans-retinyl-palmitate hydrolase, p63, retinal pigment epithelium-specific 65 kDa protein, retinitis pigmentosa 20 (autosomal recessive), retinoid isomerohydrolase, retinol isomerase
Species: human

Top Publications

  1. pmc Rpe65 isomerase associates with membranes through an electrostatic interaction with acidic phospholipid headgroups
    Quan Yuan
    Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, California 90095, USA
    J Biol Chem 285:988-99. 2010
  2. pmc Deletion of GRK1 causes retina degeneration through a transducin-independent mechanism
    Jie Fan
    Department of Ophthalmology, Division of Research, Medical University of South Carolina, Charleston, South Carolina 29412, USA
    J Neurosci 30:2496-503. 2010
  3. pmc Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years
    Samuel G Jacobson
    Scheie Eye Institute, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA
    Arch Ophthalmol 130:9-24. 2012
  4. ncbi Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy
    S M Gu
    Institut fur Humangenetik, Universitats Krankenhaus Eppendorf, Hamburg, Germany
    Nat Genet 17:194-7. 1997
  5. ncbi Mutation analysis of 3 genes in patients with Leber congenital amaurosis
    A J Lotery
    Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, Iowa City, USA
    Arch Ophthalmol 118:538-43. 2000
  6. pmc Identification of a novel palmitylation site essential for membrane association and isomerohydrolase activity of RPE65
    Yusuke Takahashi
    Department of Medicine Endocrinology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA
    J Biol Chem 284:3211-8. 2009
  7. ncbi Identification of conserved histidines and glutamic acid as key residues for isomerohydrolase activity of RPE65, an enzyme of the visual cycle in the retinal pigment epithelium
    Yusuke Takahashi
    Department of Medicine Endocrinology, The University of Oklahoma Health Sciences Center, BSEB 328B, Oklahoma City, 73104, USA
    FEBS Lett 579:5414-8. 2005
  8. pmc Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis
    H Morimura
    Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 95:3088-93. 1998
  9. ncbi Two point mutations of RPE65 from patients with retinal dystrophies decrease the stability of RPE65 protein and abolish its isomerohydrolase activity
    Yusuke Takahashi
    Department of Medicine Endocrinology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma 73104, USA
    J Biol Chem 281:21820-6. 2006
  10. ncbi The gene for the retinal pigment epithelium-specific protein RPE65 is localized to human 1p31 and mouse 3
    C P Hamel
    Laboratory of Retinal Cell and Molecular Biology, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892
    Genomics 20:509-12. 1994

Detail Information

Publications205 found, 100 shown here

  1. pmc Rpe65 isomerase associates with membranes through an electrostatic interaction with acidic phospholipid headgroups
    Quan Yuan
    Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, California 90095, USA
    J Biol Chem 285:988-99. 2010
    ..The critical isomerization step in this pathway is catalyzed by Rpe65. Rpe65 is strongly associated with membranes but contains no membrane-spanning segments...
  2. pmc Deletion of GRK1 causes retina degeneration through a transducin-independent mechanism
    Jie Fan
    Department of Ophthalmology, Division of Research, Medical University of South Carolina, Charleston, South Carolina 29412, USA
    J Neurosci 30:2496-503. 2010
    b>Rpe65(-/-) mice are unable to produce 11-cis-retinal, the chromophore of visual pigments. Consequently, the pigment is present as the apoprotein opsin with a minute level of pigment containing 9-cis-retinal as chromophore...
  3. pmc Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years
    Samuel G Jacobson
    Scheie Eye Institute, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA
    Arch Ophthalmol 130:9-24. 2012
    To determine the safety and efficacy of subretinal gene therapy in the RPE65 form of Leber congenital amaurosis using recombinant adeno-associated virus 2 (rAAV2) carrying the RPE65 gene.
  4. ncbi Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy
    S M Gu
    Institut fur Humangenetik, Universitats Krankenhaus Eppendorf, Hamburg, Germany
    Nat Genet 17:194-7. 1997
    ..The RPE expresses a tissue-specific and evolutionarily highly conserved 61 kD protein (RPE65) present at high levels in vivo...
  5. ncbi Mutation analysis of 3 genes in patients with Leber congenital amaurosis
    A J Lotery
    Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, Iowa City, USA
    Arch Ophthalmol 118:538-43. 2000
    To assess the frequency of mutations in the CRX, GUCY2D, and RPE65 genes in patients with Leber congenital amaurosis (LCA).
  6. pmc Identification of a novel palmitylation site essential for membrane association and isomerohydrolase activity of RPE65
    Yusuke Takahashi
    Department of Medicine Endocrinology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA
    J Biol Chem 284:3211-8. 2009
    b>RPE65 is a membrane-associated protein abundantly expressed in the retinal pigment epithelium, which converts all-trans-retinyl ester to 11-cis-retinol, a key step in the retinoid visual cycle...
  7. ncbi Identification of conserved histidines and glutamic acid as key residues for isomerohydrolase activity of RPE65, an enzyme of the visual cycle in the retinal pigment epithelium
    Yusuke Takahashi
    Department of Medicine Endocrinology, The University of Oklahoma Health Sciences Center, BSEB 328B, Oklahoma City, 73104, USA
    FEBS Lett 579:5414-8. 2005
    We have recently reported that RPE65 from the retinal pigment epithelium is the isomerohydrolase, a critical enzyme in the visual cycle for regeneration of 11-cis retinal, the chromophore for visual pigments...
  8. pmc Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis
    H Morimura
    Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 95:3088-93. 1998
    b>RPE65 is a protein of unknown function expressed specifically by the retinal pigment epithelium...
  9. ncbi Two point mutations of RPE65 from patients with retinal dystrophies decrease the stability of RPE65 protein and abolish its isomerohydrolase activity
    Yusuke Takahashi
    Department of Medicine Endocrinology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma 73104, USA
    J Biol Chem 281:21820-6. 2006
    b>RPE65 is the isomerohydrolase in the retinoid visual cycle essential for recycling of 11-cis retinal, the chromophore for visual pigments in both rod and cone photoreceptors...
  10. ncbi The gene for the retinal pigment epithelium-specific protein RPE65 is localized to human 1p31 and mouse 3
    C P Hamel
    Laboratory of Retinal Cell and Molecular Biology, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892
    Genomics 20:509-12. 1994
    The human and murine chromosomal localization for the gene for the retinal pigment epithelium-specific protein RPE65 was determined. Using interspecific backcross analysis, we mapped Rpe65 to the distal end of mouse chromosome 3...
  11. pmc Negative charge of the glutamic acid 417 residue is crucial for isomerohydrolase activity of RPE65
    Olga Nikolaeva
    Department of Medicine Endocrinology, Harold Hamm Oklahoma Diabetes Center, The University of Oklahoma Health Sciences Center, 941 Stanton L Young Blvd, BSEB302, Oklahoma City, OK 73104, United States
    Biochem Biophys Res Commun 391:1757-61. 2010
    b>RPE65 is the isomerohydrolase essential for regeneration of 11-cis retinal, the chromophore of visual pigments...
  12. doi Screening of the RPE65 gene in the Asian Indian patients with leber congenital amaurosis
    Gandra Mamatha
    Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai, India
    Ophthalmic Genet 29:73-8. 2008
    To determine the frequency of pathogenic mutations in the gene encoding RPE65 in patients from India with Leber congenital amaurosis (LCA).
  13. ncbi Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations
    Kholoud Al-Khayer
    Center for Genetic Eye Diseases, Cole Eye Institute, Cleaveland Clinic Foundation, Ohio 44195, USA
    Am J Ophthalmol 137:375-7. 2004
    To present long-term follow-up on a North American patient with Leber congenital amaurosis (LCA) and novel compound heterozygous mutations in the RPE65 gene.
  14. ncbi Mutations in RPE65 cause Leber's congenital amaurosis
    F Marlhens
    Nat Genet 17:139-41. 1997
  15. pmc Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial
    William W Hauswirth
    Department of Ophthalmology, University of Florida, Gainesville, FL 32610, USA
    Hum Gene Ther 19:979-90. 2008
    ..One molecular form is caused by mutations in the RPE65 (retinal pigment epithelium-specific 65-kDa) gene...
  16. doi The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis
    Richard G Weleber
    Oregon Retinal Degeneration Center, Oregon Health and Science University, Portland, OR, USA
    Invest Ophthalmol Vis Sci 52:292-302. 2011
    To describe in detail the characteristic clinical phenotype and electrophysiological features of Severe Early Childhood Onset Retinal Dystrophy (SECORD) caused by mutation of RPE65.
  17. pmc Predicting the pathogenicity of RPE65 mutations
    A R Philp
    Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, Iowa City, Iowa
    Hum Mutat 30:1183-8. 2009
    ..Eleven missense variations in the RPE65 gene were evaluated in patients with Leber congenital amaurosis (LCA) using the EPP algorithm...
  18. ncbi Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene
    Leila el Matri
    Hedi Rais Institute of Ophthalmology, Tunis, Tunisia
    Graefes Arch Clin Exp Ophthalmol 244:1104-12. 2006
    ..To identify the genetic defect, and to phenotype, three consanguineous Tunisian families presenting with early-onset retinal degeneration (EORD)...
  19. pmc Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively
    Debra A Thompson
    Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, MI, USA
    Am J Hum Genet 70:224-9. 2002
    ..We identified an apparently homozygous loss-of-function mutation of RPE65 (1p31) in one retinal dystrophy patient and an apparently homozygous loss-of-function mutation of MERTK (2q14...
  20. pmc A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement
    Sara J Bowne
    Human Genetics Center, The University of Texas Health Science Center, Houston, TX, USA
    Eur J Hum Genet 19:1074-81. 2011
    ..8 Mb region on 1p31. Of 50 known genes in the region, 11 candidates, including RPE65 and PDE4B, were sequenced using di-deoxy capillary electrophoresis...
  21. ncbi RPE65 gene: multiplex PCR and mutation screening in patients from India with retinal degenerative diseases
    Biju Joseph
    Department of Genetics and Molecular Biology, Medical and Vision Research Foundations, Sankara Nethralaya, Chennai 600 006, India
    J Genet 81:19-23. 2002
    We used multiplex PCR follwed by sequencing to screen for mutations in the 14 exons of the RPE65 gene in early-childhood-onset autosomal recessive retinitis pigmentosa (arRP) and Leber's congenital amaurosis (LCA) patients...
  22. ncbi Clinical course and visual function in a family with mutations in the RPE65 gene
    Joost Felius
    Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, USA
    Arch Ophthalmol 120:55-61. 2002
    To evaluate the phenotype of affected and carrier members of a family with mutations in RPE65 (a retinal pigment epithelium gene).
  23. ncbi Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene
    F Marlhens
    Laboratoire de Neurobiologie de l audition, Plasticité Synaptique, Hopital Gui de Chauliac, Montpellier, France
    Eur J Hum Genet 6:527-31. 1998
    ..Recent studies have shown that mutations in RPE65, a gene that codes for a retinal pigment epithelium (RPE)-specific protein thought to be involved in the 11-cis-..
  24. ncbi Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro
    C P Hamel
    Laboratory of Retinal Cell and Molecular Biology, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892
    J Biol Chem 268:15751-7. 1993
    ..microsomal membranes of the vertebrate retinal pigment epithelium (RPE) contain an RPE-specific 65-kDa protein, RPE65, which bears the determinant recognized by the strictly tissue-specific monoclonal antibody RPE9, and which is ..
  25. ncbi Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium
    A Nicoletti
    Department of Biological Chemistry, University of Michigan, Ann Arbor 48105, USA
    Hum Mol Genet 4:641-9. 1995
    The retinal pigment epithelium (RPE) of the eye expresses an abundant 61 kDa protein (RPE65), that is developmentally regulated and tissue-specific...
  26. ncbi Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients
    Francesca Simonelli
    Department of Ophthalmology, Second University of Naples, Naples, Italy
    Invest Ophthalmol Vis Sci 48:4284-90. 2007
    ..To identify the molecular basis of Leber's congenital amaurosis (LCA) in a cohort of Italian patients and to perform genotype-phenotype analysis...
  27. doi Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa
    K Guerin
    Vision Science, University of California, Berkeley, CA 94720, USA
    Exp Eye Res 87:197-207. 2008
    ..in rhodopsin (S334ter); and a mouse model of recessive disease (rd12) caused by a PTC in the retinoid isomerase Rpe65. Initial luciferase reporter assays were undertaken to measure the efficiency of gentamicin-induced read-through ..
  28. pmc Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation
    Geoffrey K Aguirre
    Department of Neurology, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
    PLoS Med 4:e230. 2007
    b>RPE65 is an essential molecule in the retinoid-visual cycle, and RPE65 gene mutations cause the congenital human blindness known as Leber congenital amaurosis (LCA)...
  29. ncbi Acute radiolabeling of retinoids in eye tissues of normal and rpe65-deficient mice
    Nasser M Qtaishat
    Lions of Illinois Eye Research Institute, Department of Ophthalmology and Visual Sciences, College of Medicine, University of Illinois at Chicago, Chicago, Illinois 60612, USA
    Invest Ophthalmol Vis Sci 44:1435-46. 2003
    Mice with a targeted disruption of the gene encoding RPE65, a protein ordinarily highly expressed in the retinal pigment epithelium (RPE), accumulate abnormally high levels of all-trans retinyl ester in the RPE and exhibit very little 11-..
  30. pmc Differential neuroglycan C expression during retinal degeneration in Rpe65-/- mice
    Pascal Escher
    Institute for Research in Ophthalmology, Sion, Switzerland
    Mol Vis 14:2126-35. 2008
    ..and CD44 antigen (CD44) has been observed during retinal degeneration in mice with a targeted disruption of the Rpe65 gene (Rpe65-/- mouse)...
  31. pmc Gene therapy regenerates protein expression in cone photoreceptors in Rpe65(R91W/R91W) mice
    Corinne Kostic
    Unit of Gene Therapy and Stem Cell Biology, Jules Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland
    PLoS ONE 6:e16588. 2011
    ..Using the Rpe65(R91W/R91W) mouse, which carries a mutation in the Rpe65 gene leading to progressive photoreceptor degeneration in ..
  32. ncbi Dominant negative p63 isoform expression in head and neck squamous cell carcinoma
    Joseph C Sniezek
    Department of Otolaryngology Head and Neck Surgery, Tripler Army Medical Center, 1 Jarrett White Road, Honolulu, HI 96859 5000, USA
    Laryngoscope 114:2063-72. 2004
    b>p63, a member of the p53 family of genes, is vital for normal epithelial development and may play a critical role in epithelial tumor formation...
  33. pmc Reconstruction of ionic currents in a molluscan photoreceptor
    M Sakakibara
    Department of Biological Science and Technology, School of High Tecnology for Human Welfare, Tokai University, Shizuoka, Japan
    Biophys J 65:519-27. 1993
    ..Based on these reconstructions of ionic currents, learning-induced enhancement of the long lasting depolarization (LLD) of the photoreceptor'slight response was shown to arise from progressive inactivation of /A, lca2+ -K+, and lCa2+.
  34. doi Giant cell tumor of bone express p63
    Brendan C Dickson
    Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, ON, Canada
    Mod Pathol 21:369-75. 2008
    b>p63 contributes to skeletal development and tumor formation; however, little is known regarding its activity in the context of bone and soft tissue neoplasms...
  35. ncbi Comparison of the basal cell-specific markers, 34betaE12 and p63, in the diagnosis of prostate cancer
    Rajal B Shah
    Deparment of Pathology and Urology, University of Michigan School of Medicine and Comprenhensive Cancer Center, Ann Arbor, Michigan 48109, USA
    Am J Surg Pathol 26:1161-8. 2002
    ..A recently identified basal cell marker p63, a p53 homologue, stains basal cell nuclei but not secretory cells...
  36. ncbi Expression of p53-related protein p63 in the gastrointestinal tract and in esophageal metaplastic and neoplastic disorders
    J N Glickman
    Department of Pathology, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
    Hum Pathol 32:1157-65. 2001
    b>p63 is a p53-related DNA-binding protein that helps regulate differentiation and proliferation in epithelial progenitor cells. Its expression has never been evaluated in the human gastrointestinal tract...
  37. ncbi Immunophenotypic overlap between adenoid cystic carcinoma and collagenous spherulosis of the breast: potential diagnostic pitfalls using myoepithelial markers
    Joseph T Rabban
    Department of Pathology, University of California, San Francisco, CA 94143, USA
    Mod Pathol 19:1351-7. 2006
    ..The diagnosis may be even more challenging in needle core biopsies. Immunohistochemical expression of p63 and c-kit distinguishes adenoid cystic carcinoma from invasive cribriform carcinoma and ductal carcinoma in situ...
  38. doi Gene expression profiling identifies p63 as a diagnostic marker for giant cell tumor of the bone
    Cheng Han Lee
    Department of Pathology, Stanford University, Stanford, CA, USA
    Mod Pathol 21:531-9. 2008
    ..types, and significance analysis of microarray identified several genes including TP73L (encoding the p63 protein) that are significantly highly expressed in GCTOB relative to these other tumors...
  39. ncbi Assessment of p63 expression in the salivary gland neoplasms adenoid cystic carcinoma, polymorphous low-grade adenocarcinoma, and basal cell and canalicular adenomas
    Paul C Edwards
    Department of Dental Medicine, Division of Oral Pathology, Long Island Jewish Medical Center, New Hyde Park, NY 11040, USA
    Oral Surg Oral Med Oral Pathol Oral Radiol Endod 97:613-9. 2004
    The purpose of this study was to determine the extent of p63 immunoreactivity in the malignant salivary gland neoplasms adenoid cystic carcinoma (ACC) and polymorphous low-grade adenocarcinoma (PLGA) and to compare this to the expression ..
  40. ncbi Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dog
    Kristina Narfstrom
    Vision Science Group, Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri Columbia, Columbia, Missouri 65211, USA
    Invest Ophthalmol Vis Sci 44:1663-72. 2003
    To assess the efficacy of AAV-mediated gene therapy to restore vision in a large number of RPE65(-/-) dogs and to determine whether systemic and local side effects are caused by the treatment.
  41. doi The use of p63 as an effective immunomarker in the diagnosis of pulmonary squamous cell carcinomas on de-stained bronchial lavage cytological smears
    M Uke
    Division of Cytology, Tata Memorial Hospital, Mumbai, India
    Cytopathology 21:56-63. 2010
    ..Lately, p63 antibody has been used for distinguishing squamous cell carcinoma from SCLC and adenocarcinoma...
  42. doi An immunohistochemical study of cervical neuroendocrine carcinomas: Neoplasms that are commonly TTF1 positive and which may express CK20 and P63
    W Glenn McCluggage
    Department of Pathology, Belfast Health and Social Care Trust, Belfast, Northern Ireland
    Am J Surg Pathol 34:525-32. 2010
    ..Cases were stained with AE1/3, chromogranin, CD56, synaptophysin, PGP9.5, TTF1, p16, p63, CK7, CK20, neurofilament, and CD99...
  43. pmc Expression of p63 in anaplastic large cell lymphoma but not in classical Hodgkin's lymphoma
    Gabriela Gualco
    Consultoria em Patologia, 18602 010 Botucatu, Sao Paulo, Brazil
    Hum Pathol 39:1505-10. 2008
    Immunohistochemical determination of p63 protein is frequently used in the pathologic diagnosis of nonhematological solid tumors...
  44. ncbi Identification of a KRAB-zinc finger protein binding to the Rpe65 gene promoter
    Zhongjian Lu
    Laboratory of Retinal Cell and Molecular Biology, National Eye Institute NIH, 7 Memorial Drive, Bethesda, MD 20892, USA
    Curr Eye Res 31:457-66. 2006
    We wish to identify transcriptional factors involved in regulation binding to the proximal promoter region of the RPE65 gene that confers RPE-specific expression.
  45. doi S-opsin protein is incompletely modified during N-glycan processing in Rpe65(-/-) mice
    Kota Sato
    Department of Biochemistry and Biotechnology, Division of Cell Technology, Faculty of Agriculture and Life Science, Hirosaki University, 3 Bunkyo cho, Aomori 036 8561, Japan
    Exp Eye Res 91:54-62. 2010
    Retinal pigment epithelium-specific protein 65 kDa (RPE65) is a key enzyme for the visual cycle in the eye. Rpe65(-/-) mice lack 11-cis-retinal, and show early cone degeneration and mislocalization of cone opsins...
  46. pmc Bax-induced apoptosis in Leber's congenital amaurosis: a dual role in rod and cone degeneration
    Séverine Hamann
    IRO, Institute for Research in Ophthalmology, Sion, Switzerland
    PLoS ONE 4:e6616. 2009
    Pathogenesis in the Rpe65(-/-) mouse model of Leber's congenital amaurosis (LCA) is characterized by a slow and progressive degeneration of the rod photoreceptors. On the opposite, cones degenerate rapidly at early ages...
  47. pmc p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation
    H van Bokhoven
    Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 69:481-92. 2001
    b>p63 mutations have been associated with EEC syndrome (ectrodactyly, ectodermal dysplasia, and cleft lip/palate), as well as with nonsyndromic split hand-split foot malformation (SHFM)...
  48. ncbi p63 expression in normal skin and usual cutaneous carcinomas
    Jorge S Reis-Filho
    IPATIMUP, Institute of Molecular Pathology and Immunology, University of Porto, Portugal
    J Cutan Pathol 29:517-23. 2002
    b>p63 is a p53 homologue that is mapped to chromosome 3q27. This gene encodes six different isoforms, which have either transactivating or dominant negative effects on p53-reporter genes...
  49. pmc Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts
    L L Barrow
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA
    J Med Genet 39:559-66. 2002
    ..EEC syndrome has been linked to chromosome 3q27 and heterozygous p63 mutations were detected in unrelated EEC families...
  50. pmc Claudin-1 is a p63 target gene with a crucial role in epithelial development
    Teresa Lopardo
    Department of Biomolecular Sciences and Biotechnology, University of Milan, Milan, Italy
    PLoS ONE 3:e2715. 2008
    ..b>p63 is a transcription factor essential for proliferation of stem cells and for stratification in epithelia, mutated in ..
  51. ncbi Immunohistochemical detection of GLUT1, p63 and phosphorylated histone H1 in head and neck squamous intraepithelial neoplasia: evidence for aberrations in hypoxia-related, cell cycle- and stem-cell-regulatory pathways
    D E Burstein
    Department of Pathology, Mount Sinai School of Medicine, New York, NY 10029, USA
    Histopathology 48:708-16. 2006
    ..Detection and grading of early squamous intraepithelial neoplasia may at times be problematic. The aim of this study was to examine the ability of immunomarkers GLUT1, phospho-histone H1 and p63 to detect such early lesions.
  52. ncbi Downregulation of p63 upon exposure to bile salts and acid in normal and cancer esophageal cells in culture
    Sabine Roman
    Digestive Physiology, Pavillon H, Hopital Edouard Herriot, Place d Arsonval, 69437 Lyon Cedex 03, France
    Am J Physiol Gastrointest Liver Physiol 293:G45-53. 2007
    b>p63 is a member of the p53 protein family that regulates differentiation and morphogenesis in epithelial tissues and is required for the formation of squamous epithelia...
  53. ncbi Effect of Rpe65 knockout on accumulation of lipofuscin fluorophores in the retinal pigment epithelium
    M L Katz
    University of Missouri School of Medicine, Mason Eye Institute, Columbia 65212, USA
    Invest Ophthalmol Vis Sci 42:3023-30. 2001
    ..In mice without a functional Rpe65 gene, isomerization of all-trans- to 11-cis-retinol is blocked...
  54. ncbi P63 and cytokeratin8/18 expression in breast, atypical ductal hyperplasia, ductal carcinoma in situ and invasive duct carcinoma
    Maha M Shamloula
    The Department of Pathology, Faculty of Medicine, Tanta University
    J Egypt Natl Canc Inst 19:202-10. 2007
    Background and Purpose : The pattern and distribution of p63 expression as a myoepithelial/basal stem cell marker can be different between atypical ductal hyperplasia (ADH), ductal carcinoma in situ (DCIS) and invasive ductal carcinoma (..
  55. doi Immunohistochemical detection of XIAP and p63 in adenomatous hyperplasia, atypical adenomatous hyperplasia, bronchioloalveolar carcinoma and well-differentiated adenocarcinoma
    Maoxin Wu
    1Department of Pathology, Mount Sinai School of Medicine, New York, NY 10029 6574, USA
    Mod Pathol 21:553-8. 2008
    ..inhibitor of apoptosis protein (XIAP), the most potent of the inhibitor of apoptosis protein (IAP) family, and p63, a marker of bronchial reserve cells (BRC) and squamous cells, in these entities...
  56. doi Partial atrophy on prostate needle biopsy cores: a morphologic and immunohistochemical study
    Wenle Wang
    Department of Pathology, The John Hopkins Medical Institutions, Baltimore, MD 21231, USA
    Am J Surg Pathol 32:851-7. 2008
    ..sent to our consultation service in 2006 from a single institution, which frequently uses a triple cocktail stain [p63, high molecular weight cytokeratin (HMWCK), alpha-methyl acyl-Coa racemase (AMACR)]...
  57. ncbi Expression of p63 in conjunctival intraepithelial neoplasia and squamous cell carcinoma
    Claudia Auw-Haedrich
    Eye Hospital, Albert Ludwigs University, 79106 Freiburg, Germany
    Graefes Arch Clin Exp Ophthalmol 244:96-103. 2006
    b>p63 is a homologue of the tumour suppressor gene p53, which is expressed in human basal squamous epithelium...
  58. pmc Transplantation of reprogrammed embryonic stem cells improves visual function in a mouse model for retinitis pigmentosa
    Nan Kai Wang
    Department of Ophthalmology, Columbia University, New York City, NY, USA
    Transplantation 89:911-9. 2010
    To study whether C57BL/6J-Tyr/J (C2J) mouse embryonic stem (ES) cells can differentiate into retinal pigment epithelial (RPE) cells in vitro and then restore retinal function in a model for retinitis pigmentosa: Rpe65/Rpe65 C57BL6 mice.
  59. pmc p63 promotes cell survival through fatty acid synthase
    Venkata Sabbisetti
    Department of Pathology, Brigham and Women s Hospital, Dana Farber Cancer Institute, Harvard Medical School, Boston, MA, USA
    PLoS ONE 4:e5877. 2009
    There is increasing evidence that p63, and specifically DeltaNp63, plays a central role in both development and tumorigenesis by promoting epithelial cell survival...
  60. ncbi Expression of p63 differs in peritoneal endometriosis, endometriomas, adenomyosis, rectovaginal septum endometriosis, and abdominal wall endometriosis
    Omero B Poli Neto
    Department of Surgery, Faculty of Medicine of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto, Brazil
    Arch Pathol Lab Med 131:1099-102. 2007
    ..One protein that plays an important role in regulating epithelial proliferation and differentiation is the 63-kDa membrane protein (p63), which is also a marker of basal and reserve cells in the female genital tract.
  61. ncbi Inhibition of epidermal growth factor receptor signaling decreases p63 expression in head and neck squamous carcinoma cells
    Keith E Matheny
    Vanderbilt Bill Wilkerson Department of Otolaryngology Head and Neck Surgery, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA
    Laryngoscope 113:936-9. 2003
    Both the epidermal growth factor receptor (EGFR) and the p53 homologue p63 are overexpressed in a significant number of cases of head and neck squamous cell carcinoma (HNSCC)...
  62. ncbi Gene therapy restores vision-dependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosis
    Ji Jing Pang
    Department of Ophthalmology, University of Florida, Gainesville, FL 32610, USA
    Mol Ther 13:565-72. 2006
    Retinal pigment epithelium-specific protein 65 kDa (RPE65) is a protein responsible for isomerization of all-trans-retinaldehyde to its photoactive 11-cis-retinaldehyde and is essential for the visual cycle...
  63. ncbi Cytology applications of p63 and TTF-1 immunostaining in differential diagnosis of lung cancers
    Maoxin Wu
    Division of Cytopathology, Department of Pathology, Mount Sinai School of Medicine, New York, New York, USA
    Diagn Cytopathol 33:223-7. 2005
    ..We have demonstrated the role of p63 and thyroid transcription factor-1 (TTF-1) in the differential diagnosis of poorly differentiated squamous-cell ..
  64. ncbi Expression of the p63 and Notch signaling systems in rat testes during postnatal development: comparison with their expression levels in the epididymis and vas deferens
    Tetsuo Hayashi
    Department of Urology, Saitama Medical Center, Saitama Medical School, 1981 Tsujido, Kamoda, Kawagoe, Saitama 350 8550, Japan
    J Androl 25:692-8. 2004
    ..A member of the p53 family of genes, p63, is highly expressed in the basal layers of epithelial tissues and plays a key role in maintaining their cell ..
  65. ncbi Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65
    Birgit Lorenz
    Department of Paediatric Ophthalmology and Ophthalmogenetics, University of Regensburg, Germany
    Ophthalmology 111:1585-94. 2004
    ..Alteration in autofluorescence reflects changes in lipofuscin content of the RPE. Mutations on both alleles of RPE65 result in absent or largely decreased formation of rhodopsin, due to a defect in all-trans retinol isomerization ..
  66. ncbi Correlation of regenerable opsin with rod ERG signal in Rpe65-/- mice during development and aging
    Baerbel Rohrer
    Department of Ophthalmology Medical University of South Carolina, 167 Ashley Avenue, Charleston, SC 29425, USA
    Invest Ophthalmol Vis Sci 44:310-5. 2003
    b>RPE65 has been shown to be essential for the production of 11-cis retinal by the retinal pigment epithelium. Mutations in RPE65 are known to be associated with severe forms of early-onset retinal dystrophy...
  67. ncbi [Detection of AMACR (P504S), P63 and 34betaE12 cocktail in the early diagnosis of prostate cancer]
    Tao Yu
    Department of Urology, Union Hospital Affiliated to Fujian Medical University, Fuzhou, Fujian 350001, China
    Zhonghua Nan Ke Xue 13:222-5. 2007
    To investigate the value of detection of AMACR (P504S), P63 and 34betaE12 cocktail in the early diagnosis of prostate cancer (PCa).
  68. ncbi Diagnostic utility of immunohistochemical staining for p63, a sensitive marker of prostatic basal cells
    Michael H Weinstein
    Department of Pathology, Brigham and Women s Hospital, Boston, Massachusetts, USA
    Mod Pathol 15:1302-8. 2002
    ..Thus, a second method of identifying basal cells might prove useful. Selective expression of p63, a homologue of p53, has been demonstrated in prostatic basal cells...
  69. doi Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects
    Nadia Lo Iacono
    Dulbecco Telethon Institute, Molecular Biotechnology Center, University of Torino, Via Nizza 52, Torino, 10126, Italy
    Development 135:1377-88. 2008
    ..SHFM-IV and Ectrodactyly-Ectodermal dysplasia-Cleft lip (EEC) are caused by mutations in p63, an ectoderm-specific p53-related transcription factor...
  70. ncbi p63 (TP73L) a key player in embryonic urogenital development with significant dysregulation in human bladder exstrophy tissue
    Bonnie J Ching
    Section of Genetics, Department of Pediatrics, University of California Davis, Sacramento, CA 95817, USA
    Int J Mol Med 26:861-7. 2010
    ..Several lines of evidence implicate genetic factors in the formation of BEEC. Among them a murine p63+/+ knockout model showed the full picture of classic exstrophy of the bladder and other urogenital defects within ..
  71. pmc p53FamTaG: a database resource of human p53, p63 and p73 direct target genes combining in silico prediction and microarray data
    Elisabetta Sbisà
    Istituto di Tecnologie Biomediche Sede di Bari, CNR, Via Amendola, 122 D 70126 Bari, Italy
    BMC Bioinformatics 8:S20. 2007
    The p53 gene family consists of the three genes p53, p63 and p73, which have polyhedral non-overlapping functions in pivotal cellular processes such as DNA synthesis and repair, growth arrest, apoptosis, genome stability, angiogenesis, ..
  72. ncbi Origin of the vertebrate visual cycle: III. Distinct distribution of RPE65 and beta-carotene 15,15'-monooxygenase homologues in Ciona intestinalis
    Noriko Takimoto
    Department of Life Science, Graduate School of Life Science, University of Hyogo, 3 2 1 Kouto, Kamigori, Ako gun, Hyogo 678 1297, Japan
    Photochem Photobiol 82:1468-74. 2006
    ..In the present study, we investigated the possible role and evolutionary origin of the BCO/RPE65 family in the visual cycle by analyzing Ci-BCO localization by immunohistochemistry and by identifying a novel ..
  73. doi Cone outer segment morphology and cone function in the Rpe65-/- Nrl-/- mouse retina are amenable to retinoid replacement
    Kannan Kunchithapautham
    Department of Neurosciences, Division of Research, Medical University of South Carolina, Charleston, South Carolina 29425, USA
    Invest Ophthalmol Vis Sci 50:4858-64. 2009
    b>RPE65, a major retinal pigment epithelium protein, is essential in generating 11-cis retinal, the chromophore for all opsins. Without chromophore, cone opsins are mislocalized and cones degenerate rapidly (e.g., Rpe65(-/-) mouse)...
  74. pmc Quantitative mapping of ion channel regulation by visual cycle activity in rodent photoreceptors in vivo
    Bruce A Berkowitz
    Department of Anatomy and Cell Biology, Wayne State University, Detroit, Michigan 48201, USA
    Invest Ophthalmol Vis Sci 50:1880-5. 2009
    ..To test the hypothesis that the extent of outer retina uptake of manganese, measured noninvasively with manganese-enhanced MRI (MEMRI), is a quantitative biomarker of photoreceptor ion channel regulation by visual cycle activity...
  75. ncbi Recognition of p63 by the E3 ligase ITCH: Effect of an ectodermal dysplasia mutant
    A Bellomaria
    Dipartimento di Scienze e Tecnologie Chimiche, University of Rome Tor Vergata, Italy
    Cell Cycle 9:3730-9. 2010
    The E3 ubiquitin ligase Itch mediates the degradation of the p63 protein. Itch contains four WW domains which are pivotal for the substrate recognition process...
  76. pmc Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle
    T Michael Redmond
    Laboratory of Retinal Cell and Molecular Biology and Biological Imaging Core, National Eye Institute, National Institutes of Health, Bethesda, MD 20892 0706, USA
    Proc Natl Acad Sci U S A 102:13658-63. 2005
    b>RPE65 is essential for isomerization of vitamin A to the visual chromophore...
  77. ncbi p63 expression in benign and malignant breast lesions
    D Stefanou
    Department of Pathology, University of Ioannina Medical School, Ioannina, Greece
    Histol Histopathol 19:465-71. 2004
    The p63 gene encodes six protein isoforms. The transactivating isoforms have similar actions with p53, while the N-isoforms inhibit transcription activation by p53 and transactivating isoforms...
  78. ncbi Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect
    G D Aguirre
    James A Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853 6401, USA
    Mol Vis 4:23. 1998
    To clone and characterize the canine RPE65 cDNA from normal dog, examine for mutations, and establish if the mutation identified in Swedish briard dogs with retinal dystrophy is present in dogs of the same breed that originated from the ..
  79. ncbi Reassessment of the subcellular localization of p63
    A Schweizer
    Department of Medicine, Washington University School of Medicine, St Louis, MO 63110, USA
    J Cell Sci 108:2477-85. 1995
    b>p63 is a type II integral membrane protein that has previously been suggested to be a resident protein of a membrane network interposed between the ER and the Golgi apparatus...
  80. doi Increased expression of p63 and survivin in cholesteatomas
    H R Park
    Department of Pathology, College of Medicine, Hallym University Sacred Heart Hospital, 896 Pyungchon Dong, Anyang, Korea
    Acta Otolaryngol 129:268-72. 2009
    This study showed increased expression of p63 and survivin in cholesteatoma. Our finding indicates a putative role of p63 and survivin in the development of certain cholesteatomas.
  81. pmc Gene therapy rescues cone structure and function in the 3-month-old rd12 mouse: a model for midcourse RPE65 leber congenital amaurosis
    Xia Li
    School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, People s Republic of China
    Invest Ophthalmol Vis Sci 52:7-15. 2011
    b>RPE65 function is necessary in the retinal pigment epithelium (RPE) to generate chromophore for all opsins. Its absence results in vision loss and rapid cone degeneration...
  82. ncbi Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis
    Samuel G Jacobson
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Hum Gene Ther 17:845-58. 2006
    ..Leber congenital amaurosis (LCA) is a molecularly heterogeneous disease group that leads to blindness. LCA caused by RPE65 mutations has been studied in animal models and vision has been restored by subretinal delivery of AAV-RPE65 ..
  83. doi The expression and diagnostic utility of p63 in the female genital tract
    Oisin Houghton
    Department of Pathology, Royal Group of Hospitals Trust, Belfast, Northern Ireland
    Adv Anat Pathol 16:316-21. 2009
    b>p63 plays a key role in epithelial development in various organs, being expressed in myoepithelial cells and in basal cells of stratified epithelia...
  84. ncbi Assessment of structure and function over a 3-year period after gene transfer in RPE65-/- dogs
    Kristina Narfstrom
    College of Veterinary Medicine, University of Missouri Columbia, Columbia, MO 65211, USA
    Doc Ophthalmol 111:39-48. 2005
    To assess retinal structure and function over a 3-year period in a group of five RPE65-/- dogs treated by unilateral rAAV- mediated subretinal gene transfer.
  85. ncbi [Construction of chimeric tumor suppressor p53 resistant to the dominant-negative interaction with p53 mutants]
    V P Almazov
    Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, 119991 Russia
    Mol Biol (Mosk) 36:664-71. 2002
    ..The chimeric p53 may be used to study the role of transdominance of p53 mutants in carcinogenesis and the interactions of p53 with related transcription factors (p73, p63).
  86. doi Constitutive overexpression of Norrin activates Wnt/β-catenin and endothelin-2 signaling to protect photoreceptors from light damage
    Barbara M Braunger
    Institute of Human Anatomy and Embryology, University of Regensburg, Universitätsstr 31, D 93053 Regensburg, Germany
    Neurobiol Dis 50:1-12. 2013
    ..properties of Norrin independently from its function during retinal angiogenesis, we generated transgenic mice (Rpe65-Norrin) that constitutively express Norrin in the retinal pigmented epithelium...
  87. pmc DLX5, FGF8 and the Pin1 isomerase control ΔNp63α protein stability during limb development: a regulatory loop at the basis of the SHFM and EEC congenital malformations
    Michela Restelli
    Department of Biosciences, University of Milano, Milano I 20133, Italy
    Hum Mol Genet 23:3830-42. 2014
    ..The p63 and the DLX5;DLX6 transcription factors, expressed in the embryonic limb buds and ectoderm, are disease genes for ..
  88. pmc Analysis of the retinoid isomerase activities in the retinal pigment epithelium and retina
    Gabriel H Travis
    Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, CA, USA
    Methods Mol Biol 652:329-39. 2010
    ..In RPE cells, this step is carried out by an enzyme called Rpe65 isomerase. This chapter provides methods for assaying Rpe65 isomerase...
  89. doi Expression of the urothelial differentiation markers GATA3 and placental S100 (S100P) in female genital tract transitional cell proliferations
    Ghada E Esheba
    Department of Pathology, Stanford University, Stanford, CA 94305, USA
    Am J Surg Pathol 33:347-53. 2009
    ..Each lesion was also evaluated for p63 expression by immunohistochemistry...
  90. doi Reconstruction of damaged corneal epithelium using Venus-labeled limbal epithelial stem cells and tracking of surviving donor cells
    Ji Qing Yin
    College of Veterinary Medicine, Northwest A and F University, Shaanxi Stem Cell Engineering and Technology Center, Yangling 712100, China
    Exp Eye Res 115:246-54. 2013
    ..Additionally, immunofluorescent staining of the reconstructed corneal epithelium demonstrated that many P63(+) cells were unevenly distributed among basal and suprabasal epithelial layers...
  91. doi Immunoprofiling of oral squamous cell carcinomas reveals high p63 and survivin expression
    I S Lauxen
    Oral Pathology, School of Dentistry, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
    Oral Dis 20:e76-80. 2014
    ..The aim of this study was to investigate the expression of proteins involved in the development and maintenance of epithelia, cell cycle regulation, and apoptosis in human oral squamous cell carcinoma (OSCC) tissue samples...
  92. doi Primary intracranial sarcomatoid carcinoma arising from a recurrent/residual epidermoid cyst of the cerebellopontine angle: a case report
    Aditya Raghunathan
    Department of Pathology and Laboratory Medicine, The Methodist Hospital, Houston, TX 77030, USA
    Am J Surg Pathol 35:1238-43. 2011
    ..the cells of the conventional SCC were positive for cytokeratin 5/6, pancytokeratin, epithelial membrane antigen, p63, and p53...
  93. pmc The performance of silk scaffolds in a rat model of augmentation cystoplasty
    Abhishek Seth
    Department of Urology, Urological Diseases Research Center, Boston Children s Hospital, Boston, MA 02115, USA
    Biomaterials 34:4758-65. 2013
    ..evaluations demonstrated the formation of a transitional, multi-layered urothelium with prominent uroplakin and p63 protein expression in all experimental groups...
  94. doi UV-induced ablation of the epidermal basal layer including p53-mutant clones resets UV carcinogenesis showing squamous cell carcinomas to originate from interfollicular epidermis
    H G Rebel
    Department of Dermatology, Leiden University Medical Center, S 2P, Albinusdreef 2, 2333 ZA Leiden, The Netherlands
    Carcinogenesis 33:714-20. 2012
    ..Pulse-chase BrdU labelling showed the IF epidermis to be repopulated from the hair follicles (remaining p63 positive). One week after overexposure, the p53-mutant clones had virtually disappeared (0...
  95. doi iASPP inhibits p53-independent apoptosis by inhibiting transcriptional activity of p63/p73 on promoters of proapoptotic genes
    Yun Cai
    Southwest Cancer Center, Southwest Hospital, Third Military Medical University, Chongqing, 400038, People s Republic of China
    Apoptosis 17:777-83. 2012
    ..In this study, we investigated the role of iASPP in the p63/p73 apoptosis pathway...
  96. doi A case of primary signet-ring cell/histiocytoid carcinoma of the eyelid: immunohistochemical comparison with the normal sweat gland and review of the literature
    Mai Iwaya
    Department of Laboratory Medicine, Shinshu University Hospital, Matsumoto, Nagano, Japan
    Am J Dermatopathol 34:e139-45. 2012
    ..MUC2(-), MUC5AC(-), GCDFP15(+), CD15(+), S100(-), CK7(+), CK20(-), ER(+), PgR (+), HER2(-), E-cadherin(+), p63(-), PSA(-), and TTF-1(-)...
  97. doi Diagnosis of lung cancer in small biopsies and cytology: implications of the 2011 International Association for the Study of Lung Cancer/American Thoracic Society/European Respiratory Society classification
    William D Travis
    Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10021, USA
    Arch Pathol Lab Med 137:668-84. 2013
    ..single adenocarcinoma marker (eg, thyroid transcription factor 1 or mucin) and a single squamous marker (eg, p40 or p63)...
  98. doi Flavones and flavonols exert cytotoxic effects on a human oesophageal adenocarcinoma cell line (OE33) by causing G2/M arrest and inducing apoptosis
    Qiang Zhang
    Key Laboratory of Dairy Science of Ministry of Education, Department of Food Science, Northeast Agricultural University, Harbin, Heilongjiang 150030, PR China
    Food Chem Toxicol 46:2042-53. 2008
    ..The results of western blot analysis further showed that increases of p63 and p73 protein translation or stability might be contribute to the regulation of GADD45beta, 14-3-3sigma, cyclin ..
  99. doi Large cell carcinoma of the lung: clinically oriented classification integrating immunohistochemistry and molecular biology
    G Rossi
    Department of Oncology and Advanced Technology, Operative Unit of Pathologic Anatomy, IRCCS Azienda Arcispedale S Maria Nuova, Reggio Emilia, Italy
    Virchows Arch 464:61-8. 2014
    ..Expression of markers specific for glandular (TTF-1, napsin A, cytokeratin 7), squamous cell (p40, p63, cytokeratins 5/6, desmocollin-3), and neuroendocrine (chromogranin, synaptophysin, CD56) differentiation was ..
  100. doi Differences in indicators of malignancy between luminal epithelial cell type and myoepithelial cell type of simple solid carcinoma in the canine mammary gland
    H Yoshimura
    Department of Veterinary Pathology, Nippon Veterinary and Life science University NVLU, Tokyo, Japan
    Vet Pathol 51:1090-5. 2014
    ..and eosin-stained tissue sections were reclassified immunohistochemically on the basis of myoepithelial markers p63 and α-smooth muscle actin, as well as a luminal epithelial marker cytokeratin 8...
  101. doi Differential altered stability and transcriptional activity of ΔNp63 mutants in distinct ectodermal dysplasias
    Gareth Browne
    Medical Research Council, Leicester University, Leicester LE19HN, UK
    J Cell Sci 124:2200-7. 2011
    Heterozygous mutations of p63, a key transcription factor in epithelial development, are causative in a variety of human ectodermal dysplasia disorders...

Research Grants66

  1. Transcriptional regulation of oncogenic properties of mutant p53
    Luis Alfonso Martinez; Fiscal Year: 2013
    ..the first involves the physical inactivation of other tumor suppressor proteins such as its family members, p63 and p73, and the other is dependent on its ability to regulate gene expression...
  2. Mechanism of p63-Dependent Tumor Suppression
    Xinbin Chen; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): P63 is a member of the p53 family. When the upstream promoter is used for p63 expression, three major TAp63 isoforms, TAp63a, TAp63[unreadable], and TAp63?, are produced...
  3. Mechanism of p73-dependent tumor suppression
    Xinbin Chen; Fiscal Year: 2013
    ..tumor burdens and metastasis rates, which are compounded in mice harboring heterozygous alleles of p53 and/or p63. However, p73 is not a classic tumor suppressor since mutant mice are also prone to developmental defects, chronic ..
  4. P63/IGFBP3/BCL2 Control of Corneal Epithelial Homeostasis
    Danielle M Robertson; Fiscal Year: 2011
    ....
  5. Human Osteoprogenitor Control by Hepatocyte Growth Factor and Vitamin D
    Guy Howard; Fiscal Year: 2013
    ..Data shows that p63, a member of the p53 family of transcription factors, plays a major role in the cooperative actions of HGF and 1,..
  6. REGULATION AND FUNCTION OF KERATINS IN THE EPIDERMIS
    DENNIS ROOP; Fiscal Year: 2010
    ..We have recently demonstrated that the transcription factor p63 is the molecular switch for initiation of the epidermal stratification program...
  7. Molecular etiology of cervicovaginal adenosis by in utero hormone exposure
    Takeshi Kurita; Fiscal Year: 2013
    ..demonstrated that developmental exposure to DES induces cervical/vaginal adenosis by disrupting expression of p63 transcription factor, which is essential for development of squamous epithelia...
  8. Novel Genetic Models to Study the Role of DNp63 in Squamous Cell Carcinoma
    Rose Anne Romano; Fiscal Year: 2013
    ..sequencing data emerging from the Cancer Genome Atlas Project, strongly suggest that the transcription factor p63, specifically the most prevalent Np63 isoforms, function as an oncogene in the early stages of SCC development...
  9. Elucidating the transcriptional network in p63 expressing mammary myoepithelium
    Satrajit Sinha; Fiscal Year: 2013
    ..This is epitomized by the striking phenotype of the p63 knockout mice, which lack a mature stratified epidermis and exhibit a block in development of multiple ectodermal ..
  10. The role of p63 in hair follicle stem cells and cancer
    Maranke I Koster; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): The p63 gene encodes several transcription factors that are required for normal development and homeostasis of the skin and its appendages...
  11. Osteogenic Maturation and Bone Repair Require 1,25- and 24,25-dihydroxyvitamin D
    KEVIN MATTHEW CURTIS; Fiscal Year: 2012
    ..During murine development, the transcription factor p63 is required for skeletal formation, and our recent work demonstrated that p63 is integral for hepatocyte growth ..
  12. REGULATION OF NEUROGENESIS IN OLFACTORY EPITHELIUM
    James E Schwob; Fiscal Year: 2013
    ..Recently, we have shown that the transcription factor p63 is key to HBC differentiation and regeneration...
  13. ROLES AND REGULATION OF P53
    Carol Prives; Fiscal Year: 2013
    ..an interdisciplinary and collaborative approach to understand the roles of mutant p53, p53 family member's p63 and p73 and new tumor suppressor genes in cancer...
  14. PROGRAMS OF GENE EXPRESSION IN OLFACTORY NEUROGENESIS
    JOHN J NGAI; Fiscal Year: 2013
    ..In this application we propose to investigate the role of the transcription factor p63 - a member of the p53 family of tumor suppressors - in olfactory stem cell regulation...
  15. Novel Genetic Approach To Isolate Stem Cells Of The Oral Cavity
    Satrajit Sinha; Fiscal Year: 2012
    ..Recent studies have offered compelling evidence in support of the transcription factor p63, particularly the ?Np63 isoform, to be highly expressed in the stem cell compartment of the stratified squamous ..
  16. Olfactory Epithelial Stem Cell Regulation by the Transcription Factor p63
    Nikolai Schnittke; Fiscal Year: 2013
    ..The transcription factor p63, a member of the p53 family, is necessary for the embryonic appearance of HBCs and loss of p63 expression in the ..
  17. Functional analysis of the p53 tumor suppressor
    Moshe Oren; Fiscal Year: 2012
    ..genes in a manner leading to transcriptional silencing, explore the possibility that dominant negative forms of p63, a p53 family member, are responsible for the failure of p53 to function as an effective tumor suppressor in some ..
  18. Cellular and molecular biology of lung surfactant
    Aron B Fisher; Fiscal Year: 2013
    ..This project provides novel information on P63 as a biologically-relevant SP-A receptor...
  19. MOLECULAR PROGRESSION MODEL FOR HNSCC
    David Sidransky; Fiscal Year: 2012
    ..Specific tumor suppressor genes, including p14 and p16, and proto-oncogenes, including p63, have been identified as critical in oral cancer development...
  20. PREVENTION OF QUINONE TOXICITY AND MUTAGENICITY
    ANIL KUMAR JAISWAL; Fiscal Year: 2013
    ..that NQO1 and NQO2 stabilization of tumor suppressor p53 against 20S proteasome degradation and down regulation of p63 and MAPK pathway contributed to carcinogenesis...
  21. Genetics of Meiosis and Recombination in Mice
    John C Schimenti; Fiscal Year: 2013
    ..We also found that both programmed and induced DSBs trigger CHK2-dependent phosphorylation of p63 (TRP63) in diplotene oocytes...
  22. Role of PUMA in EGFR targeted therapy in HNSCC
    Jian Yu; Fiscal Year: 2012
    ..Furthermore, EGFR TKIs induce PUMA through the effects on the p53 family members p63 and p73, but not p53 itself...
  23. Novel Vaginal Microbicides Based On Stable AAV-Neutralizing Antibody Gene Transfe
    Wayne A Marasco; Fiscal Year: 2010
    ..comprising endocervical, ectocervical and vaginal epithelial cells with special focus on stable gene transfer into p63+CK17+epithelial stem cells which are capable of renewing stratified epithelium...
  24. Role of DeltaNp63alpha in Vitamin D Mediated Cell Survival in Skin Cancer
    Madhavi P Kadakia; Fiscal Year: 2013
    ..We have previously shown that VDR is positively regulated by the most abundant and physiologically relevant p63 isoform, [unreadable]Np63a...
  25. The role of p63 and p73 in cancer
    UTE MARTHA MOLL; Fiscal Year: 2012
    Title: the Role of p63 and p73 in Cancer PI: Ute M. Moll, M.D. Abstract p53 controls a powerful stress response and is a quintessential tumor suppressor...
  26. Compacted DNA Nanoparticles for Ocular Therapy
    Muna I Naash; Fiscal Year: 2013
    ..functional rescue in mouse models of retinitis pigmentosa (RP, Rds+/-), Leber's congenital amaurosis (LCA, Rpe65-/-), and Stargardt's disease (STGD1, Abca4-/-)...
  27. p63 and p73 Signaling in Cell Growth and Cancer
    Jennifer A Pietenpol; Fiscal Year: 2013
    Although the pivotal role of p53 in tumor suppression remains unchallenged, the role of its family members, p63 and p73 in normal cell function and tumorigenesis is far from certain...
  28. Osteosarcoma Translational Research
    Qiping Zheng; Fiscal Year: 2013
    ..data from the principal investigator's group have shown that transgenic mice overexpressing Runx2 or P63 in hypertrophic chondrocytes result in delayed or accelerate chondrocyte maturation respectively...
  29. Novel integrative method to detect biomakers of breast cancer resistance
    Sheida Nabavi; Fiscal Year: 2013
    ..The recent discovery of the p63/p73 expression, p53 mutation and measurements of DNA repair status effects on the sensitivity to cisplatin in TNBC ..
  30. Topical delivery of nanoencapsulated plasmid DNA to posterior ocular targets
    Gretchen M Unger; Fiscal Year: 2012
    ..LCA2 mouse models are useful because they have severe vision deficits due to simple lack of a single gene product (RPE65), yet they have delayed morphological degeneration...
  31. Roles of p63 in regulation of miRNA and LincRNA targets in metastatic cancer
    Elsa R Flores; Fiscal Year: 2013
    ..The functions of p63, a p53 family member, are beginning to be understood in contexts in which p53 function has been well established, ..
  32. Optimizing systemic stem/progenitor cell therapy for AMD
    MARIA BARTOLOMEO GRANT; Fiscal Year: 2013
    ..To address these limitations, we have made a number of exciting discoveries: 1) forced expression of the RPE65 gene allows mouse hematopoietic stem cells (mHSC), when injected back into the circulation, to home to the retina ..
  33. Cone Opsin-Ligand Interactions and Photoreceptor Health
    Masahiro Kono; Fiscal Year: 2013
    ..In Leber Congenital Amaurosis type 2 (LCA2), generation of the native chromophore of visual pigments (11-cis retinal) is inhibited...
  34. The Role of Muller Cells in Visual Pigment Regeneration
    Gabriel H Travis; Fiscal Year: 2013
    ..The rate of retinol isomerization by DES1 is 300-fold faster than the rate of isomerization catalyzed by Rpe65 of the RPE Visual Cycle...
  35. Clinical trials of gene therapy for Leber congenital amaurosis
    SAMUEL GREGORY JACOBSON; Fiscal Year: 2013
    ..gene delivery to the retina of patients with blindness from Leber congenital amaurosis (LCA) and mutations in the RPE65 (retinal pigment epithelium-specific protein 65-kDa) gene...
  36. p63-Dependent Checkpoints in Oocytes
    Frank D McKeon; Fiscal Year: 2010
    ..How DNA damage triggers the death of these arrested oocytes is poorly understood but we now know that p63, a homolog of the p53 tumor suppressor, is highly expressed in these oocytes and plays an essential role in their ..
  37. Cortical Structure and Function in Blindness and following Restored Vision
    Geoffrey Karl Aguirre; Fiscal Year: 2013
    ..In a population of patients with blindness from RPE65-LCA, we will further determine which of these measures are modified by successful retinal gene therapy to restore ..
  38. Mechanisms of Delta-N-p63-alpha transcriptional repression and its role in squamo
    CORRIE LYNN GALLANT-BEHM; Fiscal Year: 2013
    ....
  39. P63 mechanisms and mediators in HNSCC
    Leif W Ellisen; Fiscal Year: 2013
    ..Cell Carcinoma (HNSCC) and related cancers, by understanding the function and regulation of the p53 family members p63 and p73. The p53 family of proteins plays a key role in the pathogenesis of HNSCC...
  40. Chromophore Effects in Genetically Diverse Forms of Retinal Dystrophy
    Debra A Thompson; Fiscal Year: 2010
    ..In individuals with mutations in the retinoid isomerase gene RPE65, compelling outcomes were obtained using gene therapy approaches that increase retina levels of the chromophore 11-..
  41. Vitreal delivery of novel AAV vectors for CNGA3 achromatopsia cone gene therapy
    Jijing Pang; Fiscal Year: 2013
    ..the IV injection option is based on recently published results for 15 patients from the current NEI sponsored LCA2 clinical trial (NCT00481546)...
  42. Mechanisms regulating prostate epithelium maintenance and regeneration
    Sabina Signoretti; Fiscal Year: 2013
    ..The p63 gene is selectively expressed in basal cells of various epithelia and is required for epithelial development...
  43. Phase 1/2 Trial of rAAV2-CB-hRPE65 (BB-IND 13848, 11 Sep 2009) for Leber Congenit
    Jeffrey D Chulay; Fiscal Year: 2013
    ..approximately 8 to 10% are caused by mutations in a gene encoding a retinal pigment epithelium-specific 65 kDa (RPE65) protein...
  44. Role of p53 homologs in DNA repair in human keratinocytes
    Dennis H Oh; Fiscal Year: 2013
    ..current award period has documented that keratinocytes require loss of both p53 and another member of the family-p63-before repair is compromised...
  45. Carotinoids in Vision
    JOHANNES FRIEDERICH VONLINTIG; Fiscal Year: 2013
    ..key recycling reaction, namely trans-to-cis isomerization, depends on the retinal pigmented epithelium protein, RPE65. Mutations in RPE65 lead to a spectrum of retinal dystrophies ranging from Leber congenital amaurosis (LCA) to ..
  46. A novel mouse prostate carcinogenesis model for dietary cancer prevention researc
    Chung S Yang; Fiscal Year: 2013
    ..NF-kB and CD45), and oxidative stress (8-OHdG and -H2AX), as well as the expression of GSTP1, E-cadherin, COX-2, p63, p27, Pten, Nkx3.1, p16, and Bcl-2 by immunohistochemistry (IHC)...
  47. Novel Photoreceptor Proteins and Retinal Degenerations
    Eric A Pierce; Fiscal Year: 2013
    ..patients'IRD has become especially important with the recent success of clinical trials of gene therapy for RPE65 Leber congenital amaurosis (LCA)...
  48. Regulation of normal and Leber congenital amaurosis-associated RPE65s
    Minghao Jin; Fiscal Year: 2013
    ..We have identified RPE65, a retinal pigment epithelium (RPE) specific membrane-associated protein, as the retinoid isomerase...
  49. RETINOIDS IN VISION
    KRZYSZTOF NMI PALCZEWSKI; Fiscal Year: 2013
    ..use a number of biophysical and biochemical techniques to characterize the structure and catalytic mechanism of RPE65, the enzyme responsible for transforming all-trans-retinyl esters to 11-cis-retinol...
  50. Cone opsins in photoreceptor degeneration
    Yingbin Fu; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Retinoid isomerase, RPE65, and Lecithin-retinol acyltransferase (LRAT) are important in recycling 11-cis- retinal in retinal pigment epithelium (RPE)...
  51. STUDIES OF RPE65
    Jian Xing Ma; Fiscal Year: 2013
    ..b>RPE65 is a membrane-associated protein predominantly expressed in the retinal pigment epithelium (RPE)...
  52. Longitudinal Neuroimaging of Leber's Congenital Amaurosis After Gene Therapy
    Manzar Ashtari; Fiscal Year: 2012
    ..LCA2 is the form of LCA caused by RPE65 mutations, a form which has been amenable to gene augmentation therapy in both animals and humans...
  53. Translational Gene Therapy for Rhodopsin Autosomal Dominant Retinitis Pigmentosa
    William A Beltran; Fiscal Year: 2013
    ..The research studies described in this proposal represent a continuation of a longstanding collaboration between the module scientists that already has brought retinal gene therapy for RPE65-LCA patients to a Phase I clinical trial.
  54. Translational Research for Retinal Degeneration Therapies
    GUSTAVO DAVID AGUIRRE; Fiscal Year: 2013
    ..of a longstanding collaboration between the module scientists that already has brought retinal gene therapy for RPE65-LCA patients to a Phase I clinical trial...
  55. Novel adeno-associated virus vector production system development
    Weidong Xiao; Fiscal Year: 2013
    ..Recombinant AAV vectors delivering RPE65 gene have been demonstrated to cure Leber's congenital amaurosis (LCA) disease and patients are able to ..
  56. Regulation of Mutant P53 Expression and Oncogenic Activity
    Xinbin Chen; Fiscal Year: 2013
    ..e., p63 and p73), which would then enhance gain of function for these p53 mutants...
  57. Molecular Biology of Recombinant AAV Genomes
    Weidong Xiao; Fiscal Year: 2013
    ..In clinical trial, rAAV vectors delivering RPE65 gene have been demonstrated to cure Leber's congenital amaurosis (LCA) diseases and patients are able to ..
  58. Life Cycle of Human Papillomaviruses
    Laimonis A Laimins; Fiscal Year: 2013
    ..Additional important activities identified for E6 include blocking of p300 acetylation of p53 and activation of p63 upon differentiation...
  59. p53 Family in Gastric Cancer Development
    Alexander I Zaika; Fiscal Year: 2013
    ..p53 protein has been relatively well characterized, less is known about other members of the p53 family, p73 and p63. Accumulating evidence suggest that p73 and p63 significantly affect the p53 activity and function in concert with ..
  60. Cytoplasmic Reactivation of p53 Family Members
    Charles Walker; Fiscal Year: 2004
    ..leukemia in the soft-shell clam, Mya arenaria, in which clam homologs that we have identified for human p53 and p63/73 proteins are rendered non-functional by their sequestration in the cytoplasm of leukemic clam hemocytes...
  61. Retinyl Ester Binding Proteins and the Visual Cycle
    Robert Rando; Fiscal Year: 2007
    ..Mutations in RPE65 are known to cause a form of retinyl degeneration. It is only the membrane associated form (mRPE65) which stereospecifically binds tREs and the soluble form of this protein (sRPE65) is shown to stereospecifically ..
  62. Novel Vaginal Microbicides Based On Stable AAV-Neutralizing Antibody Gene Transfe
    Wayne Marasco; Fiscal Year: 2009
    ..comprising endocervical, ectocervical and vaginal epithelial cells with special focus on stable gene transfer into p63+CK17+epithelial stem cells which are capable of renewing stratified epithelium...
  63. RETINAL PATHOPHYSIOLOGY OF INFANTS AND ADULTS
    David Birch; Fiscal Year: 2005
    ..As in the abcr-/- and rpe65-/- models, these studies should help clarify the underlying defect and lead to pharmaceutical interventions...
  64. Biochemical and Genetic Analysis of the Visual Cycle
    GABRIEL TRAVIS; Fiscal Year: 2009
    ..Virtually nothing is known about regulation of the visual cycle. Two recent observations in our laboratory on rpe65-/- knockout mice and cultured RPE cells showed light-mediated mobilization of retinyl esters...
  65. RETINAL GENE DELIVERY BY ADENO-ASSOCIATED VIRUS
    William Hauswirth; Fiscal Year: 2009
    ..disease, the RS-1 knock out mouse, a model for X-linked Retinoschisis, the rd12 mouse, a model for RPE65 LCA, the LRAT knock out mouse, a model for recessive childhood RP, the Cpfl3 mouse, a model for Achromotopsia 2 (..
  66. Cytokines Stimulate Prostate Epithelial Proliferation
    Wade Bushman; Fiscal Year: 2009
    ..and demonstrate that these inflammatory mediators promote epithelial growth and a selective expansion of p63+ epithelial cells...